ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.797A>T (p.Asn266Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004654682 SCV005146367 uncertain significance not specified 2024-04-16 criteria provided, single submitter clinical testing The c.797A>T (p.N266I) alteration is located in exon 8 (coding exon 8) of the NEBL gene. This alteration results from a A to T substitution at nucleotide position 797, causing the asparagine (N) at amino acid position 266 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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